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Items: 1 to 50 of 200

1.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.

van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007098. doi: 10.1212/WNL.0000000000007098. [Epub ahead of print]

PMID:
30737337
2.

Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.

de Laat P, Rodenburg RJ, Smeitink JAM, Janssen MCH.

Mol Genet Genomic Med. 2018 Dec 4. doi: 10.1002/mgg3.523. [Epub ahead of print]

3.

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K.

Eur J Med Genet. 2018 Nov 10. pii: S1769-7212(18)30265-9. doi: 10.1016/j.ejmg.2018.11.006. [Epub ahead of print]

PMID:
30423443
4.

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

Nat Commun. 2018 Oct 3;9(1):4065. doi: 10.1038/s41467-018-06250-w.

5.

Age-Dependent Decrease of Mitochondrial Complex II Activity in a Familial Mouse Model for Alzheimer's Disease.

Emmerzaal TL, Rodenburg RJ, Tanila H, Verweij V, Kiliaan AJ, Kozicz T.

J Alzheimers Dis. 2018;66(1):75-82. doi: 10.3233/JAD-180337.

PMID:
30248054
6.

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.

Bosch AM, Kamsteeg EJ, Rodenburg RJ, van Deutekom AW, Buis DR, Engelen M, Cobben JM.

Mol Genet Metab Rep. 2018 Sep 13;17:19-21. doi: 10.1016/j.ymgmr.2018.09.002. eCollection 2018 Dec.

7.

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, Rein R, Talvik I, Rodenburg RJ, Õunap K.

Mol Genet Metab Rep. 2018 Mar 15;15:80-89. doi: 10.1016/j.ymgmr.2018.03.004. eCollection 2018 Jun.

8.

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.

Gödiker J, Grüneberg M, DuChesne I, Reunert J, Rust S, Westermann C, Wada Y, Classen G, Langhans CD, Schlingmann KP, Rodenburg RJ, Pohlmann R, Marquardt T.

J Hum Genet. 2018 Jun;63(6):707-716. doi: 10.1038/s10038-018-0442-y. Epub 2018 Apr 4.

PMID:
29618761
9.

Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.

Foriel S, Beyrath J, Eidhof I, Rodenburg RJ, Schenck A, Smeitink JAM.

Dis Model Mech. 2018 Mar 27;11(3). pii: dmm032482. doi: 10.1242/dmm.032482.

10.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E.

Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22.

11.

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

Smith AC, Ito Y, Ahmed A, Schwartzentruber JA, Beaulieu CL, Aberg E, Majewski J, Bulman DE, Horsting-Wethly K, Koning DV; Care4Rare Canada Consortium, Rodenburg RJ, Boycott KM, Penney LS.

J Inherit Metab Dis. 2018 Jul;41(4):719-729. doi: 10.1007/s10545-017-0122-7. Epub 2018 Mar 20.

PMID:
29560582
12.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.

EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.

13.

Iron deficiency impairs contractility of human cardiomyocytes through decreased mitochondrial function.

Hoes MF, Grote Beverborg N, Kijlstra JD, Kuipers J, Swinkels DW, Giepmans BNG, Rodenburg RJ, van Veldhuisen DJ, de Boer RA, van der Meer P.

Eur J Heart Fail. 2018 May;20(5):910-919. doi: 10.1002/ejhf.1154. Epub 2018 Feb 27.

14.

A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS).

Esterhuizen K, Lindeque JZ, Mason S, van der Westhuizen FH, Suomalainen A, Hakonen AH, Carroll CJ, Rodenburg RJ, de Laat PB, Janssen MCH, Smeitink JAM, Louw R.

Mitochondrion. 2019 Mar;45:38-45. doi: 10.1016/j.mito.2018.02.003. Epub 2018 Feb 19.

PMID:
29471047
15.

Validation of the Chowdhury overall survival score in patients with melanoma brain metastasis treated with Gamma Knife Radiosurgery.

Rodenburg RJ, Hanssens PE, Ho VKY, Beerepoot LV.

J Neurooncol. 2018 Jun;138(2):391-399. doi: 10.1007/s11060-018-2808-6. Epub 2018 Feb 22.

PMID:
29470692
16.

The functional genomics laboratory: functional validation of genetic variants.

Rodenburg RJ.

J Inherit Metab Dis. 2018 May;41(3):297-307. doi: 10.1007/s10545-018-0146-7. Epub 2018 Feb 14.

17.

A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Distelmaier F, Janssen MCH, Rodenburg RJT, Smeitink JAM, Nijtmans LGJ.

J Pediatr. 2018 May;196:309-313.e3. doi: 10.1016/j.jpeds.2017.12.043. Epub 2018 Feb 13.

PMID:
29395179
18.

Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency.

Puusepp S, Kovacs-Nagy R, Alhaddad B, Braunisch M, Hoffmann GF, Kotzaeridou U, Lichvarova L, Liiv M, Makowski C, Mandel M, Meitinger T, Pajusalu S, Rodenburg RJ, Safiulina D, Strom TM, Talvik I, Vaarmann A, Wilson C, Kaasik A, Haack TB, Õunap K.

Eur J Hum Genet. 2018 Mar;26(3):407-419. doi: 10.1038/s41431-017-0001-6. Epub 2018 Jan 17.

19.

The genotypic and phenotypic spectrum of MTO1 deficiency.

O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann SB, Mayr JA, Brunner-Krainz M, Prokisch H, Wasserman WW, Wevers RA, Engelke UF, Rodenburg RJ, Ting TW, McFarland R, Taylor RW, Salvarinova R, van Karnebeek CDM.

Mol Genet Metab. 2018 Jan;123(1):28-42. doi: 10.1016/j.ymgme.2017.11.003. Epub 2017 Nov 15.

20.

4-Hydroxybenzoic acid restores CoQ10 biosynthesis in human COQ2 deficiency.

Herebian D, Seibt A, Smits SHJ, Rodenburg RJ, Mayatepek E, Distelmaier F.

Ann Clin Transl Neurol. 2017 Oct 17;4(12):902-908. doi: 10.1002/acn3.486. eCollection 2017 Dec.

21.

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schäfer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA.

Nat Genet. 2018 Jan;50(1):120-129. doi: 10.1038/s41588-017-0006-7. Epub 2017 Dec 18.

22.

Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.

JIMD Rep. 2017;33:111. doi: 10.1007/8904_2017_588. No abstract available.

23.

Statins Affect Skeletal Muscle Performance: Evidence for Disturbances in Energy Metabolism.

Allard NAE, Schirris TJJ, Verheggen RJ, Russel FGM, Rodenburg RJ, Smeitink JAM, Thompson PD, Hopman MTE, Timmers S.

J Clin Endocrinol Metab. 2018 Jan 1;103(1):75-84. doi: 10.1210/jc.2017-01561.

PMID:
29040646
24.

Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

Wortmann SB, Timal S, Venselaar H, Wintjes LT, Kopajtich R, Feichtinger RG, Onnekink C, Mühlmeister M, Brandt U, Smeitink JA, Veltman JA, Sperl W, Lefeber D, Pruijn G, Stojanovic V, Freisinger P, V Spronsen F, Derks TG, Veenstra-Knol HE, Mayr JA, Rötig A, Tarnopolsky M, Prokisch H, Rodenburg RJ.

Hum Mutat. 2017 Dec;38(12):1786-1795. doi: 10.1002/humu.23340. Epub 2017 Oct 6.

PMID:
28905505
25.

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Wintjes LT, Brink M, van den Brandt FA, Wilson C, Rodenburg RJT, Nijtmans LGJ.

Eur J Hum Genet. 2017 Nov;25(11):1273-1277. doi: 10.1038/ejhg.2017.133. Epub 2017 Aug 30.

26.

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.

Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chrétien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kölker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P.

Am J Hum Genet. 2017 Aug 3;101(2):283-290. doi: 10.1016/j.ajhg.2017.07.001. Epub 2017 Jul 27.

27.

Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG.

Schorling DC, Rost S, Lefeber DJ, Brady L, Müller CR, Korinthenberg R, Tarnopolsky M, Bönnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Krüger M, van der Knaap M, Kirschner J.

Neurology. 2017 Aug 15;89(7):657-664. doi: 10.1212/WNL.0000000000004234. Epub 2017 Jul 21.

28.

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Schottmann G, Picker-Minh S, Schwarz JM, Gill E, Rodenburg RJT, Stenzel W, Kaindl AM, Schuelke M.

Mitochondrion. 2017 Nov;37:46-54. doi: 10.1016/j.mito.2017.06.007. Epub 2017 Jul 4.

PMID:
28687512
29.

Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function.

Panneman DM, Smeitink JA, Rodenburg RJ.

Clin Genet. 2018 May;93(5):943-951. doi: 10.1111/cge.13094. Epub 2017 Dec 11. Review.

PMID:
28686290
30.

NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Fung CW, Chan SH, Wong VC, Hellebrekers DME, de Coo IFM, Smeitink JAM, Rodenburg RJT, Nijtmans LGJ.

Clin Genet. 2018 Jan;93(1):111-118. doi: 10.1111/cge.13089. Epub 2017 Nov 21.

PMID:
28671271
31.

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Melcher M, Danhauser K, Seibt A, Degistirici Ö, Baertling F, Kondadi AK, Reichert AS, Koopman WJH, Willems PHGM, Rodenburg RJ, Mayatepek E, Meisel R, Distelmaier F.

Stem Cell Res Ther. 2017 Jun 24;8(1):150. doi: 10.1186/s13287-017-0601-7.

32.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY.

Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.

33.

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.

Renkema GH, Visser G, Baertling F, Wintjes LT, Wolters VM, van Montfrans J, de Kort GAP, Nikkels PGJ, van Hasselt PM, van der Crabben SN, Rodenburg RJT.

Hum Genet. 2017 Jun;136(6):759-769. doi: 10.1007/s00439-017-1794-7. Epub 2017 Apr 6.

34.

Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.

Baertling F, Al-Murshedi F, Sánchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ.

Hum Mutat. 2017 Jun;38(6):692-703. doi: 10.1002/humu.23210. Epub 2017 Mar 23.

PMID:
28247525
35.

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Vieira P, Cameron J, Rahikkala E, Keski-Filppula R, Zhang LH, Santra S, Matthews A, Myllynen P, Nuutinen M, Moilanen JS, Rodenburg RJ, Rolfs A, Uusimaa J, van Karnebeek CDM.

Mol Genet Metab. 2017 Apr;120(4):337-341. doi: 10.1016/j.ymgme.2017.02.003. Epub 2017 Feb 6.

PMID:
28216384
36.

[Serious complications during treatment with methotrexate: also in chronic low-dosage use].

Rodenburg RJ, Wijnands MJ, Rensma PL.

Ned Tijdschr Geneeskd. 2017;161:D575. Review. Dutch.

PMID:
28120731
37.

Microbial stimulation of different Toll-like receptor signalling pathways induces diverse metabolic programmes in human monocytes.

Lachmandas E, Boutens L, Ratter JM, Hijmans A, Hooiveld GJ, Joosten LA, Rodenburg RJ, Fransen JA, Houtkooper RH, van Crevel R, Netea MG, Stienstra R.

Nat Microbiol. 2016 Dec 19;2:16246. doi: 10.1038/nmicrobiol.2016.246.

PMID:
27991883
38.

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG.

Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11.

PMID:
27986404
39.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW.

Am J Hum Genet. 2016 Dec 1;99(6):1405. doi: 10.1016/j.ajhg.2016.11.001. No abstract available.

40.

A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

Al Mutairi F, Shamseldin HE, Alfadhel M, Rodenburg RJ, Alkuraya FS.

Clin Genet. 2017 Apr;91(4):629-633. doi: 10.1111/cge.12891. Epub 2016 Nov 30.

PMID:
27905109
41.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM.

EMBO Mol Med. 2017 Jan;9(1):96-111. doi: 10.15252/emmm.201606356.

42.

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR.

Genome Med. 2016 Nov 1;8(1):106.

43.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW.

Am J Hum Genet. 2016 Oct 6;99(4):860-876. doi: 10.1016/j.ajhg.2016.08.014. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2016 Dec 1;99(6):1405.

44.

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

van Dijk T, van Ruissen F, Jaeger B, Rodenburg RJ, Tamminga S, van Maarle M, Baas F, Wolf NI, Poll-The BT.

JIMD Rep. 2017;33:87-92. doi: 10.1007/8904_2016_584. Epub 2016 Sep 29.

45.

Bilateral Vestibulopathy Aggravates Balance and Gait Disturbances in Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis: A Case Report.

van Leeuwen RB, Smits BW, Rodenburg RJ, van Engelen BG.

J Clin Neuromuscul Dis. 2016 Sep;18(1):34-6. doi: 10.1097/CND.0000000000000126.

PMID:
27552387
46.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.

Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O'Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA.

Am J Hum Genet. 2016 Sep 1;99(3):674-682. doi: 10.1016/j.ajhg.2016.06.027. Epub 2016 Aug 11.

47.

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).

Balasubramaniam S, Lewis B, Mock DM, Said HM, Tarailo-Graovac M, Mattman A, van Karnebeek CD, Thorburn DR, Rodenburg RJ, Christodoulou J.

JIMD Rep. 2017;33:99-107. doi: 10.1007/8904_2016_559. Epub 2016 Jul 22. Erratum in: JIMD Rep. 2017;33:111.

48.

Mitochondrial complex I dysfunction and altered NAD(P)H kinetics in rat myocardium in cardiac right ventricular hypertrophy and failure.

Wüst RC, de Vries HJ, Wintjes LT, Rodenburg RJ, Niessen HW, Stienen GJ.

Cardiovasc Res. 2016 Sep;111(4):362-72. doi: 10.1093/cvr/cvw176. Epub 2016 Jul 11.

PMID:
27402402
49.

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.

Sánchez-Caballero L, Ruzzenente B, Bianchi L, Assouline Z, Barcia G, Metodiev MD, Rio M, Funalot B, van den Brand MA, Guerrero-Castillo S, Molenaar JP, Koolen D, Brandt U, Rodenburg RJ, Nijtmans LG, Rötig A.

Am J Hum Genet. 2016 Jul 7;99(1):208-16. doi: 10.1016/j.ajhg.2016.05.022. Epub 2016 Jun 30.

50.

Three families with 'de novo' m.3243A > G mutation.

de Laat P, Janssen MC, Alston CL, Taylor RW, Rodenburg RJ, Smeitink JA.

BBA Clin. 2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016 Dec.

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